Variant report

Variant	rs369427635
Chromosome Location	chr5:57755526-57755527
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr5:57755462-57757152	HCT-116	colon:	n/a	chr5:57756022-57756031
2	TAF1	chr5:57755127-57756430	MCF-7	breast:	n/a	n/a
3	MAX	chr5:57755455-57756969	HepG2	liver:	n/a	chr5:57756022-57756031
4	RAD21	chr5:57754174-57757575	SK-N-SH	brain:	n/a	chr5:57755497-57755509 chr5:57756736-57756755 chr5:57755955-57755967 chr5:57755364-57755374 chr5:57756324-57756337 chr5:57756780-57756792 chr5:57756742-57756751
5	POLR2A	chr5:57755502-57756815	GM18526	blood:	n/a	n/a
6	RAD21	chr5:57754101-57757035	IMR90	lung:	n/a	chr5:57755497-57755509 chr5:57756736-57756755 chr5:57755955-57755967 chr5:57755364-57755374 chr5:57756324-57756337 chr5:57756780-57756792 chr5:57756742-57756751
7	ELF1	chr5:57755323-57755553	HepG2	liver:	n/a	chr5:57755414-57755425 chr5:57755414-57755425 chr5:57755415-57755424 chr5:57755345-57755354 chr5:57755416-57755425 chr5:57755497-57755509
8	RAD21	chr5:57755489-57757166	HCT-116	colon:	n/a	chr5:57755497-57755509 chr5:57756736-57756755 chr5:57755955-57755967 chr5:57756324-57756337 chr5:57756780-57756792 chr5:57756742-57756751
9	RAD21	chr5:57754889-57756996	SK-N-SH_RA	brain:	n/a	chr5:57755497-57755509 chr5:57756736-57756755 chr5:57755955-57755967 chr5:57755364-57755374 chr5:57756324-57756337 chr5:57756780-57756792 chr5:57756742-57756751
10	POLR2A	chr5:57755230-57756816	A549	lung:	n/a	n/a
11	REST	chr5:57754597-57756257	H1-neurons	neurons:	n/a	n/a
12	TAF1	chr5:57755393-57756501	SK-N-SH	brain:	n/a	n/a
13	POLR2A	chr5:57745705-57757136	HUVEC	blood vessel:	n/a	n/a
14	CHD2	chr5:57754650-57756867	Hela-S3	cervix:	n/a	n/a
15	MAX	chr5:57755452-57757190	ECC-1	luminal epithelium:	n/a	chr5:57756022-57756031
16	POLR2A	chr5:57755477-57756067	H1-hESC	embryonic stem cell:	n/a	n/a
17	EP300	chr5:57754512-57757000	A549	lung:	n/a	chr5:57756094-57756103
18	NFIC	chr5:57755422-57756892	ECC-1	luminal epithelium:	n/a	n/a
19	ZNF143	chr5:57755248-57757041	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr5:57754179-57756864	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr5:57746016-57757149	HUVEC	blood vessel:	n/a	n/a
22	RAD21	chr5:57755132-57757160	MCF-7	breast:	n/a	chr5:57755497-57755509 chr5:57756736-57756755 chr5:57755955-57755967 chr5:57755364-57755374 chr5:57756324-57756337 chr5:57756780-57756792 chr5:57756742-57756751
23	RAD21	chr5:57754545-57757114	HCT-116	colon:	n/a	chr5:57755497-57755509 chr5:57756736-57756755 chr5:57755955-57755967 chr5:57755364-57755374 chr5:57756324-57756337 chr5:57756780-57756792 chr5:57756742-57756751
24	SIN3AK20	chr5:57755393-57756048	A549	lung:	n/a	n/a
25	SP1	chr5:57755470-57757092	A549	lung:	n/a	chr5:57755998-57756010 chr5:57755999-57756008 chr5:57756227-57756236 chr5:57755957-57755968 chr5:57756000-57756009 chr5:57755954-57755968 chr5:57755958-57755967 chr5:57756622-57756631 chr5:57755999-57756008 chr5:57756226-57756235 chr5:57755998-57756010 chr5:57755999-57756009 chr5:57756620-57756632 chr5:57755957-57755969 chr5:57756621-57756630 chr5:57755946-57755957
26	PBX3	chr5:57755460-57756135	A549	lung:	n/a	n/a
27	SMC3	chr5:57754211-57757082	Hela-S3	cervix:	n/a	chr5:57756242-57756249 chr5:57756237-57756251 chr5:57756235-57756249 chr5:57756740-57756754
28	EP300	chr5:57755428-57757014	SK-N-SH	brain:	n/a	chr5:57756094-57756103
29	POLR2A	chr5:57750892-57756934	HUVEC	blood vessel:	n/a	n/a
30	POLR2A	chr5:57755270-57756883	MCF-7	breast:	n/a	n/a
31	RAD21	chr5:57755522-57757105	SK-N-SH_RA	brain:	n/a	chr5:57756736-57756755 chr5:57755955-57755967 chr5:57756324-57756337 chr5:57756780-57756792 chr5:57756742-57756751
32	RAD21	chr5:57755129-57757010	H1-hESC	embryonic stem cell:	n/a	chr5:57755497-57755509 chr5:57756736-57756755 chr5:57755955-57755967 chr5:57755364-57755374 chr5:57756324-57756337 chr5:57756780-57756792 chr5:57756742-57756751
33	TAF1	chr5:57755187-57756168	H1-hESC	embryonic stem cell:	n/a	n/a
34	TAF1	chr5:57755164-57756911	A549	lung:	n/a	n/a
35	ELF1	chr5:57755455-57756167	A549	lung:	n/a	chr5:57755497-57755509
36	PML	chr5:57755109-57756353	MCF-7	breast:	n/a	n/a
37	POLR2A	chr5:57752745-57756859	MCF10A-Er-Src	breast:	n/a	n/a
38	REST	chr5:57753891-57757088	A549	lung:	n/a	n/a
39	POLR2A	chr5:57754097-57756207	SK-N-SH	brain:	n/a	n/a
40	POLR2A	chr5:57755272-57756260	H1-hESC	embryonic stem cell:	n/a	n/a
41	SIN3A	chr5:57755088-57757033	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr5:57754494-57756867	H1-neurons	neurons:	n/a	n/a
43	E2F6	chr5:57755209-57756983	H1-hESC	embryonic stem cell:	n/a	chr5:57755947-57755959 chr5:57756117-57756129 chr5:57755475-57755487 chr5:57756045-57756057
44	POLR2A	chr5:57753945-57757071	IMR90	lung:	n/a	n/a
45	YY1	chr5:57755416-57756352	A549	lung:	n/a	chr5:57756224-57756235 chr5:57756230-57756241 chr5:57755423-57755434 chr5:57755495-57755509
46	POLR2A	chr5:57755297-57756811	U87	brain:	n/a	n/a
47	POLR2A	chr5:57755256-57756761	A549	lung:	n/a	n/a
48	TCF7L2	chr5:57755469-57756948	HCT-116	colon:	n/a	n/a
49	POLR2A	chr5:57755230-57756890	Hela-S3	cervix:	n/a	n/a
50	SIN3AK20	chr5:57749882-57757124	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:57754151..57755936-chr7:55433318..55434853,2	MCF-7	breast:
2	chr1:70820185..70820796-chr5:57755458..57756161,2	Hela-S3	cervix:
3	chr5:43483590..43484682-chr5:57755358..57756317,3	Hela-S3	cervix:
4	chr17:56707798..56710603-chr5:57755406..57757452,2	MCF-7	breast:
5	chr17:57923573..57925801-chr5:57753845..57756826,2	MCF-7	breast:
6	chr5:57364074..57376813-chr5:57753679..57758569,26	MCF-7	breast:
7	chr13:45914599..45915531-chr5:57755434..57756066,2	Hela-S3	cervix:
8	chr5:57168184..57169711-chr5:57754494..57756798,2	MCF-7	breast:
9	chr15:50646865..50647703-chr5:57755281..57755896,2	HCT-116	colon:
10	chr11:67272949..67273778-chr5:57755428..57756176,2	Hela-S3	cervix:
11	chr5:57755500..57756258-chr6:26157554..26158450,2	Hela-S3	cervix:
12	chr5:56718251..56719814-chr5:57752697..57755659,2	MCF-7	breast:
13	chr5:57754652..57757569-chr8:146051207..146054086,2	MCF-7	breast:

Variant related genes	Relation type
PLK2	TF binding region
ENSG00000266864	Chromatin interaction
ENSG00000132434	Chromatin interaction
ENSG00000249492	Chromatin interaction
ENSG00000238899	Chromatin interaction
ENSG00000244879	Chromatin interaction
ENSG00000151881	Chromatin interaction
ENSG00000104064	Chromatin interaction
ENSG00000147789	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000158373	Chromatin interaction
ENSG00000110697	Chromatin interaction
ENSG00000118454	Chromatin interaction
ENSG00000170919	Chromatin interaction
ENSG00000201524	Chromatin interaction
ENSG00000197568	Chromatin interaction
ENSG00000250308	Chromatin interaction
ENSG00000133112	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3332078	chr5:57754795-57756793	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases
2	esv3437453	chr5:57755020-57757568	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:57750000-57756800	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr5:57750800-57756800	Active TSS	Right Atrium	heart
3	chr5:57751000-57756800	Active TSS	Brain Angular Gyrus	brain
4	chr5:57751600-57756800	Active TSS	Rectal Smooth Muscle	rectum
5	chr5:57751600-57756800	Active TSS	Right Ventricle	heart
6	chr5:57751600-57757000	Active TSS	Brain Hippocampus Middle	brain
7	chr5:57751800-57756800	Active TSS	Brain Cingulate Gyrus	brain
8	chr5:57752000-57756600	Active TSS	Aorta	Aorta
9	chr5:57752200-57756200	Active TSS	Stomach Smooth Muscle	stomach
10	chr5:57752200-57756800	Active TSS	Fetal Stomach	stomach
11	chr5:57752200-57756800	Active TSS	Lung	lung
12	chr5:57752200-57756800	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr5:57753000-57756800	Active TSS	Esophagus	oesophagus
14	chr5:57753200-57756200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr5:57753200-57756400	Active TSS	Duodenum Mucosa	Duodenum
16	chr5:57753400-57756600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr5:57753400-57756600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr5:57753400-57756800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr5:57753400-57756800	Active TSS	Psoas Muscle	Psoas
20	chr5:57753600-57756200	Active TSS	Colonic Mucosa	Colon
21	chr5:57753600-57756800	Active TSS	Rectal Mucosa Donor 31	rectum
22	chr5:57753600-57756800	Active TSS	NHDF-Ad	bronchial
23	chr5:57753600-57757000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr5:57753800-57755800	Active TSS	Fetal Brain Male	brain
25	chr5:57753800-57756200	Active TSS	Placenta Amnion	Placenta Amnion
26	chr5:57753800-57756800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr5:57753800-57756800	Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr5:57754000-57755800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
29	chr5:57754000-57756800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr5:57754200-57756600	Active TSS	Gastric	stomach
31	chr5:57754200-57756600	Active TSS	Stomach Mucosa	stomach
32	chr5:57754200-57756800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr5:57754200-57756800	Active TSS	H9 Cell Line	embryonic stem cell
34	chr5:57754200-57756800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr5:57754200-57756800	Active TSS	Colon Smooth Muscle	Colon
36	chr5:57754200-57757000	Active TSS	Pancreas	Pancrea
37	chr5:57754400-57755800	Flanking Active TSS	Primary hematopoietic stem cells	blood
38	chr5:57754400-57755800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
39	chr5:57754400-57756000	Active TSS	Fetal Heart	heart
40	chr5:57754400-57756200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr5:57754400-57756200	Active TSS	Fetal Lung	lung
42	chr5:57754400-57756200	Active TSS	NHLF	lung
43	chr5:57754400-57756400	Active TSS	Fetal Muscle Trunk	muscle
44	chr5:57754400-57756800	Active TSS	ES-I3 Cell Line	embryonic stem cell
45	chr5:57754400-57756800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr5:57754400-57756800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr5:57754400-57756800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr5:57754400-57756800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
49	chr5:57754400-57756800	Active TSS	Pancreatic Islets	Pancreatic Islet
50	chr5:57754400-57756800	Active TSS	Fetal Muscle Leg	muscle

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